The Heart Is a Muscle, Too: Part Two

Part 1 of this series(Quest, Vol. 6, No. 2) addressed cardiomyopathy, the degeneration of heart muscle that often occurs in many neuromuscular diseases. In this part, we'll address electrical problems that can occur in the heart as an effect of neuromuscular diseases, including Duchenne, Becker, Emery-Dreifuss and myotonic muscular dystrophies; a type of limb-girdle muscular dystrophy; Friedreich's ataxia; hyperkalemic and hypokalemic periodic paralysis; and some metabolic and mitochondrial disorders. We'll explore some of the results of these problems and some available treatments.

A: Some neuromuscular diseases, such as Duchenne and Becker muscular dystrophies, frequently lead to cardiomyopathy, a problem with the muscle layer of the heart. Part 1 of this series explored cardiomyopathy in depth.

Another type of heart problem that occurs in neuromuscular disorders is cardiac arrhythmias, abnormalities in the heart's electrical pacing system, or a heartbeat or pulse rate that's too fast, too slow or irregular. Electrical heart problems can be common and serious in myotonic (MMD) and Emery-Dreifuss (EDMD) muscular dystrophies and in some other neuromuscular disorders. These conditions may involve direct damage to the cells of the cardiac conduction system.

Everyone with a neuromuscular disease should be aware that heart rhythm problems can also occur as a result of cardiomyopathy or respiratory problems. The good news is that arrhythmias, whatever the cause, can be treated. It's important to be alert to signs of arrhythmias so you can get early treatment.

A: It may sound funny to talk about the electrical properties of the heart, but electricity is a form of energy that results from the flow of charged particles, whether they're in a biological or manufactured system. In the heart, it's the electrical system — usually called the conduction system — that regulates the heartbeat. Abnormalities in the heartbeat's rate or rhythm are called arrhythmias or dysrhythmias.

In the heart, as in other muscles and in nerves, electrical signals are produced by a flow of charged particles known as ions that move in and out of cells across membranes. The key ions in this process are particles of sodium, calcium and potassium. Their flow is regulated in large part by the actions of ion channels, submicroscopic pores in the cell membrane that open and close and allow ions to travel through the membrane at very high speeds. Most medications used to treat cardiac arrhythmias act on these ion channels (see Medications chart).

A: About 99 percent of the heart's muscle layer (myocardium) consists of muscle cells that contract in response to electrochemical signals. About 1 percent of the muscle layer is made up of specialized cells known as the conduction system, similar to the wiring in a mechanical device. These "wiring" cells control the rate and rhythm of the heartbeat by controlling the rate and direction of electrical impulses as they go through the heart (see illustration).

The heartbeat is produced by an electrical current that starts in the right atrium, then goes to the left atrium and then to the ventricles. When the current is interrupted or impulses don't form in the usual way, an abnormal heartbeat, or arrhythmia, is the likely result. This occurs in some types of neuromuscular disease. Arrhythmias can also be a byproduct of cardiomyopathy (a problem in the muscle layer of the heart), which is common in some other neuromuscular disorders.

The heart's "master pacemaker" is the sinoatrial (SA) node, which sits high in the right atrium, one of the two upper chambers of the heart. The SA node is a little like a car's battery. Without a functioning battery, the car's engine won't start, even if it's in fine condition. Without a working SA node, the heart won't beat at a normal rate, even if it's otherwise healthy. But unlike a car, which has only one battery, the heart has auxiliary pacemaker sites that can take over for a dead SA node. The problem is that they usually set a pace that's considerably slower than the master pacemaker.

From the SA node, electrical impulses quickly spread through the right and left atria via muscle cells in the myocardium. Experts disagree about whether there are also specialized conduction pathways in the atria.

The next stop for the electrical impulses is the atrioventricular (AV) node, low in the right atrium. Here, impulses are delayed for about a 10th of a second, just long enough to allow the atria to contract and add blood to the heart's lower chambers — the ventricles — before the ventricles get the signal to contract. (The ventricles have mostly filled with blood before the atria contract, but atrial contraction adds more.) It's the ventricles that are the most crucial part of the working myocardium, responsible for pumping blood to the lungs and to the rest of the body.

The impulses then pass into the ventricles, where they first meet the common bundle, also known as the bundle of His. The common bundle is like a telephone cable and transmits impulses from the AV node to the rest of the ventricles. It divides into two thinner "cables," known as the left and right bundle branches.

The bundle branches divide into still thinner cables called Purkinje fibers, which transmit impulses to all parts of the ventricles. After leaving the Purkinje fibers, impulses travel from muscle cell to muscle cell to all cells of the ventricular muscle layer. The cells in the lower part of each ventricle contract slightly earlier than the cells in the upper parts, which helps eject blood from the ventricles, in the same way that toothpaste is emptied from the tube from the bottom up.

The whole process normally takes a fraction of a second, with all cells contracting nearly simultaneously.

The process can be assessed with an electrocardiogram (EKG), a test in which electrodes applied to the skin indirectly measure the path of impulses as they travel through the heart.

A: The cardiac conduction system can malfunction in several ways. Electrical impulses might never get started — a "dead battery" scenario. Or they might not be conducted all the way through the normal pathway — a "short circuit" scenario. Or they might take the wrong route: An impulse could start from somewhere outside the normal pathway or circle back when it should move in only one direction. Or, impulses could be conducted too quickly or too slowly through the heart.

All these abnormalities of both impulse formation and impulse conduction can occur. In general, the fast arrhythmias (when the heart beats too fast) and the ones that involve "off the beaten path" circuits or "off the path" beats (which usually make the heartbeat too fast or irregular) are secondary to factors such as cardiomyopathy, respiratory impairment or medications — any of which can occur in a neuromuscular disease.

In contrast, the slow arrhythmias (when the heart beats too slowly), which are also seen in some neuromuscular diseases, are generally due to the direct effects of the disease on the cells of the cardiac conduction system. Some arrhythmias need no treatment, while others need immediate treatment. Good treatments are available for most arrhythmias.

A: The SA node can set a pace for the heart without any input from the rest of the body. But, under normal conditions, the SA node receives and heeds chemical signals from the body via hormones from the blood and chemical neurotransmitters from nerve endings. These signals tell the SA node to speed up under conditions of stress, such as exercise, anxiety or a sudden increase in the need for oxygen for any reason (such as a change in altitude or a breathing problem).

The SA node would set a pace of about 100 beats a minute without any outside input. With normal input from the nervous system and other feedback systems, the SA node's pacing rate is usually between 60 and 100 beats a minute. It can be much higher under special conditions, such as strenuous exercise.

Because the SA node responds to signals from elsewhere in the body reporting on everything from blood oxygen and carbon dioxide levels to anxiety, it's easy to see how problems anywhere in the cardiovascular or respiratory system could affect the SA node's behavior and, thus, the heart rate.

Nearly everyone with heart muscle damage — cardiomyopathy — is prone to cardiac arrhythmias, usually fast ones, which are called tachyarrhythmias. These probably occur because of signals to the SA node and perhaps other parts of the heart as well. So, neuromuscular diseases that cause cardiomyopathy can also lead to tachyarrhythmias.

Likewise, people with failing respiratory muscles, also a common problem in neuromuscular disease, are susceptible to arrhythmias as their blood oxygen levels fall.

So, sometimes in neuromuscular disease, the cardiac arrhythmias are secondary to another, primary problem, such as cardiac or respiratory muscle damage. These arrhythmias may resolve when the primary problem is treated; or they may not, in which case the arrhythmia needs separate treatment.

There are also a few conditions in which the concentration of ions in the fluid around heart cells is abnormal, such as during attacks of hyperkalemic or hypokalemic periodic paralysis. Because the heart cells contract and relax in response to ion flow, these unusual ion concentrations can influence the heartbeat. Specialists say direct involvement of ion channels in cardiac muscle may also occur in some people with periodic paralysis, but this hasn't been well studied.

Q:What happens when the cells of the conduction system are directly damaged by a neuromuscular disorder?

A: There are some neuromuscular disorders in which direct damage to the cells of the cardiac conduction system occurs. This type of problem occurs mainly in myotonic muscular dystrophy (MMD), Emery-Dreifuss muscular dystrophy (EDMD), a chromosome 1 form of limb-girdle muscular dystrophy (LGMD type 1B), Friedreich's ataxia (FRDA), and some of the metabolic and mitochondrial disorders that affect muscle, particularly debrancher enzyme deficiency and Kearns-Sayre syndrome.

It can also occur in Duchenne and Becker MD, but in these disorders cardiomyopathy is usually the more serious and common problem. In general, the cardiac problems in neuromuscular disorders develop gradually and increase in severity with age.

When cells in the conduction system are damaged, the usual result is either a cardiac conduction block, which is like a "short circuit," or disordered impulse formation, which is like a battery problem. Another term for conduction block is heart block.

When the SA node fails to pace the heart or when its impulses are blocked, cells lower in the heart that are capable of pace setting usually take over. However, their pacing rate is slower than that of the SA node, and the person develops a slow heart rate, called a bradyarrhythmia. If the heart rate is much below 60, the person won't be able to do much exercise and may feel uncomfortable even at rest. Most people pass out with a heart rate of less than 40 beats a minute.

Blocked conduction from the atria to the ventricles — AV block — is one type of conduction disorder. It's often seen in EDMD. Pacemaker cells lower in the heart take over at a very slow rate. These blocks can be partial or complete.

Blocks can also occur in the bundle branches, changing the normal pathway through which impulses travel, and at other places along the cardiac conduction pathway.

Conduction system damage can also affect impulse formation in the SA node so that the SA pacemaker is set at too fast or too slow a rate. It may alternate between rates that are too fast and too slow, a condition known as sick sinus syndrome or tachy-brady syndrome.

Conduction system abnormalities in EDMD are a special case. In addition to conduction block (usually an AV block), people with EDMD get very fast heart rhythms affecting only the atria, or they develop an unusual condition called atrial standstill. These conditions seem to be related to direct damage to the conduction system.

In atrial standstill, the atria are electrically dead and paralyzed, so there's no atrial contraction to add blood to the ventricles. In very fast atrial rhythms, the atria are beating so fast that they have little or no time to fill with blood and they fail to enhance ventricular filling. In atrial flutter, the atria contract about 300 times a minute — like a hummingbird's wings; in atrial fibrillation, the atria are like a bag of worms, constantly quivering with no effective pumping action.

Very fast atrial rhythms and atrial standstill both cause blood to pool in the atria, which can lead to the formation of clots and increase the risk of stroke. If the atrial problem can't be corrected, a drug is usually prescribed to reduce the blood's clotting ability.

Another unusual factor in EDMD is that female carriers of the X-linked form of the disease can show heart problems. X-linked diseases are carried on the X chromosome and usually affect only males.

A: Surprisingly, the symptoms of a heart rate that's too fast or too slow are very similar, because in both situations the end result is an insufficient amount of blood reaching the vital organs, such as the brain. In the slow (brady) arrhythmias, symptoms are dizziness, lightheadedness, feeling faint or actually fainting. People with very slow heart rates have trouble exercising and may feel fatigued or short of breath. If the heart actually stops or if the rate is too slow to sustain the vital organs, sudden death can result.

Fast (tachy) arrhythmias cause many of the same symptoms, because a very fast ventricular rate means the ventricles don't have time to fill with blood between beats and therefore can't pump enough blood through the body. People feel dizzy or lightheaded and can faint. They also generally feel the heart beating fast — palpitations — and may experience chest pain, a sign that the heart is beating so fast that it's demanding more blood than its arteries can supply. Like those with slow heart rates, people with very fast heart rates may also have difficulty with exercise. They may feel short of breath or fatigued.

Normal Conduction and Two Types of Arrhythmias

Abnormal Pacing from AtriumCells in an atrium take on pacemaker role, overriding the SA node and leading to fast heart rates.

Normal HeartNormal conduction path is from SA node to atria and AV node, then to bundle branches and Purkinje fibers. Heart rate is about 60 to 100 beats per minute.

Atrioventricular BlockPacemaker cells in common bundle can pace heart, but heart rate is too slow.

A: Yes. Medications, electronic devices and electrosurgery are the main treatments. Cardiac arrhythmias, particularly bradyarrhythmias due to conduction blocks, are among the most treatable of medical disorders.

In neuromuscular disorders, the first step is often to assess the cause of the abnormal heart rate or rhythm and determine whether or not the conduction system itself is the primary problem. A referral to a cardiologist is often part of the assessment process.

The doctor will listen to the heart with a stethoscope and probably order an EKG to see how the electrical system is behaving. The doctor may also request a special 24-hour EKG recording called Holter monitoring to see how the heart responds to different activities. More extensive studies can be done if needed.

The internist, pediatrician, cardiologist or neurologist needs to look at the "whole picture" in the person with an arrhythmia, particularly when neuromuscular disease is involved.

Respiratory status is a factor. If the person with the arrhythmia isn't breathing well because his respiratory muscles are weakening, this should be addressed, possibly with noninvasive assisted ventilation. (For more on assisted ventilation, read the MDA pamphlet "Breathe Easy.")

General cardiac condition can affect conduction. If the patient is known to have a degenerating myocardium (cardiomyopathy), treatment for this condition may be the first step in controlling the arrhythmia.

Dietary factors, smoking and medications can play a role. Caffeine and tobacco can cause cardiac arrhythmias, particularly in people susceptible to them for other reasons, such as existing cardiac damage. Many medications, such as over-the-counter cold medicines containing pseudoephedrine and certain anti-depressants known as tricyclics, can also lead to arrhythmias. Ironically, many medications used to treat heart disease can themselves cause arrhythmias, so an early step in diagnosis and treatment may be to take a careful look at which medications the patient has been taking and either change medications or adjust dosages.

A:Anti-arrhythmic medications are mostly for tachyarrhythmias. There are dozens of drugs today to specifically treat cardiac arrhythmias, mostly to treat the fast type. Unfortunately, when a patient also has cardiomyopathy, as people with neuromuscular disorders often do, most of these drugs can be dangerous and have to be used with extreme care, if at all.

Amiodarone (Cordarone), an anti-arrhythmic medication, has a good track record in people with neuromuscular disease who also have cardiomyopathy.

The medications chart below lists some of the anti-arrhythmics you may encounter. Most work by blocking ion channels and thereby changing the way sodium, calcium and potassium ions flow across cell membranes in the heart. These ion flow patterns determine the heart's rate and rhythm, but they themselves respond to many influences, notably chemicals secreted by the nervous system. Some anti-arrhythmics block these "upstream" chemical signals, while others act on the "downstream" ion channels, while still others act at both sites.

Anti-arrhythmics are divided into classes based on how they work. Digoxin (Lanoxin) isn't classed with the other anti-arrhythmic drugs. It's usually used to treat cardiomyopathy and heart failure, but it can also be used — with caution — as an anti-arrhythmic.

In addition to the anti-arrhythmic drugs, people with atrial standstill or atrial fibrillation or flutter (which occur in EDMD) need anti-coagulant (anti-clotting) medications to reduce the risk of clot formation and stroke. Doctors may use aspirin or, if that's not effective, warfarin (Coumadin, Panwarfin, Sofarin) for this purpose.

Electronic devices can be used for tachy- and bradyarrhythmias. Cardiac pacemakers were originally developed to treat bradyarrhythmias caused by failure of the SA node to pace the heart or failure of conduction through the heart.

Today, there are many kinds of pacemakers, including some that can correct tachyarrhythmias as well as brady- arrhythmias.

There are also devices known as implantable cardioverter-defibrillators (ICDs) which deliver a safe type of electric shock to stop a potentially lethal fast heart rhythm by "resetting" the heart's conduction system.

Modern technology allows all these therapies to be delivered via a single electronic device. In some situations, there's an advantage to implanting two separate devices.

Today's implantable electronic devices are about the size of a small pager and usually require only minor surgery at the time of insertion or battery changing (about every five years).

The "brain" of the pacemaker — the pulse generator — is usually placed in the chest area just under the skin (see "If You're Facing Pacing"). Attached to the pulse generator are one or more insulated wires that can sense the heart's electrical activity and modify it by delivering impulses. These impulses either supplement or override the patient's own heart rate and rhythm.

Minor surgery can remove small areas where cells are abnormal. Doctors can insert a catheter (very thin tube) into the heart via a blood vessel to destroy small areas of abnormal conduction tissue by burning, freezing or radio waves. This technique can sometimes be used when the precise area that's causing the arrhythmia has been identified. A pacemaker may be required afterward.

In rare instances, open-heart surgery can be used to accomplish the tissue destruction.

Medications Used to Treat Arrhythmias

Type of Medication

How It Works

Example(s); Generic (Brand Name)

Class 1 Anti-arrhythmic

Blocks cardiac sodium channels; slows rate of impulse conduction throughout heart; some drugs also affect potassium channels, altering how long it takes the heart to "reset" after each impulse

Blocks potassium, sodium and calcium channels, and beta receptors (amiodarone); or blocks potassium channels and beta receptors (sotalol); many actions, but mostly prolongs each impulse and prolongs time between impulses

William Groh, a specialist in electrophysiology of the heart at Indiana University, Indianapolis;

Stanley Goldberg, a pediatric cardiologist specializing in echocardiography at University of Arizona Medical Center, Tucson; and

William Lewis, a specialist in heart failure at the University of California at Davis.

Massimo Pandolfo, a neurologist at the University of Montreal, was a consultant on heart problems in Friedreich's ataxia.

Louis Ptacek, a neurologist and geneticist at the University of Utah in Salt Lake City, was consulted about heart problems in ion channel disorders.

If You're Facing Pacing

Today's electronic cardiac pacing devices are extremely sophisticated and very dependable. Your doctor and the manufacturer will provide specific information about your device as well as any necessary precautions. You should always carry with you your medical information and the manufacturer's information about the device.

Most people find they feel much better with a pacemaker or pacemaker/ICD and are sometimes able to resume activities they had abandoned because of excessive fatigue or other symptoms.

Pacemakers and implantable cardioverter-defibrillators (ICDs) are usually placed in the chest, as shown in this X-ray photo of the Profile™ MD, an ICD made by St. Jude Medical Cardiac Rhythm Management Division, Sylmar, Calif. Photo courtesy of St. Jude Medical.

After you get your pacemaker, you'll need regular checkups, during which the doctor will "interrogate" the device using a special computer. He can reprogram it to match any changes in your condition.

Most people can work, exercise and have a normal sex life with a pacemaker or ICD. Microwave ovens, computers, portable telephones and most devices found in the average home and office pose no danger to the person with a modern device. Electric wheelchairs also pose no hazard. The metal in the implanted device may set off the sensor in security systems, so you'll have to show your ID card to get around this kind of problem. Cellular phones that can be used over long distances require some precautions, such as not holding the phone too close to the pacemaker.

Ironically, the most serious threats to safety for the pacemaker wearer come from medical equipment — MRI scanners, transcutaneous electrical nerve stimulators used for pain control, therapeutic ultrasound equipment and the type of radiation used to treat tumors. Always tell your doctor, dentist or any other medical practitioner that you have a pacemaker or ICD. Ordinary X-rays are safe. In fact, the manufacturer of the implantable device usually designs it so that it can be clearly identified on an X-ray if other information isn't available.

"I was aware I had a problem from the time I was 13 years old," says Rafael Velez, a Hartford, Conn., attorney who has Emery-Dreifuss muscular dystrophy and a pacemaker. Velez, now 48, grew up in Puerto Rico and was as active as any other boy.

"I would play baseball, go deep-sea fishing, diving, snorkeling and swimming," he says. But one day, when he was 13, an aunt who was visiting told his mother that Rafael was "walking like a cowboy," with his arms bowing out as if he were ready to draw his guns. Also, he says, "I couldn't run like other kids."

Still, no one in the family had any muscle problems and they weren't overly concerned during Velez's childhood. Then, at 18, he entered the University of Puerto Rico in Rio Piedras and had a standard entrance physical.

"The doctor told me he couldn't hear a heartbeat," Velez recalls, "but he knew that I was alive. He wanted me to come back for a more thorough check, but I didn't do it for another year."

Then Velez started playing touch football. "When I was doing it, I was fine," he says. "But later, when I was in the classroom, I would notice that I'd get a funny feeling, like a dizzy spell for a few seconds. I knew that it had to do with either my eyes, my ears or my heart. My eyes were checked and they were 20/20. My ears were checked and they were fine." That left his heart.

"They checked me and said, 'You have a complete heart block. There's nothing wrong with beating at that rate at the present time, but you're racing cars and diving, and if this happens when you're racing a car, you could lose consciousness and crash, or when you're diving, you could drown.'"

Velez was hospitalized for evaluation and, that night, his heart rate dropped to about 15 beats a minute. The doctors told him that if he wanted to continue with his present activities, he'd have to have a pacemaker inserted. Velez told them, "OK. Go."

Pacemakers in the late 1960s were still in the early stages of development, and Velez had to have a number of them before he found one that really met his needs — a rare type with a plutonium battery.

Over the years, while Velez's heart problem was well controlled, his skeletal muscles continued to weaken. In 1995, he picked up some MDA literature and started reading about a condition called Emery-Dreifuss muscular dystrophy that involved heart block. "I said, 'Bingo; that's me.'" The MDA clinic at the University of Connecticut in Farmington confirmed his own diagnosis.

Velez still has some muscle weakness, but, he says, "I lead a fairly active life. I still do swimming, and I still like to deep-sea fish." His active law practice covers personal injury and medical malpractice cases, divorces, custody suits and bankruptcy work.

He was divorced many years ago and has two daughters and two grandchildren. The pacemaker hasn't interfered with his love life. He says a recent companion, a nurse, couldn't tell he had it.

He worries about young people whose heart problems may not be detected or who may fear the treatment. "When people die from my disease, they die fairly young because the heart block is not picked up," Velez cautions.

He's aware that most young people associate pacemakers with the elderly, so he's always happy to give talks to young men and women facing pacemaker implantation. In 1996, he received an MDA state Personal Achievement Award, in part because of this role as a pacemaker advocate.

When he was nominated for the award, Velez wrote: "I believe that the desire and motivation to get on with life comes from oneself with an 'I can do' attitude, the recognition that it could be worse, and, at least in my case, being very stubborn."